Yum, tasty mutations...

MutationTaster - study a chromosomal position

MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000187910
Querying Taster for transcript #2: ENST00000402603
Querying Taster for transcript #3: ENST00000292125
Querying Taster for transcript #4: ENST00000402456
MT speed 1.85 s - this script 3.991899 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
PSG6polymorphism_automatic1.81399339993504e-12simple_aaeaffectedH85Dsingle base exchangers3198831show file
PSG6polymorphism_automatic1.81399339993504e-12simple_aaeaffectedH85Dsingle base exchangers3198831show file
PSG6polymorphism_automatic1.81399339993504e-12simple_aaeaffectedH85Dsingle base exchangers3198831show file
PSG6polymorphism_automatic1.81399339993504e-12simple_aaeaffectedH85Dsingle base exchangers3198831show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998186 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:43420451G>CN/A show variant in all transcripts   IGV
HGNC symbol PSG6
Ensembl transcript ID ENST00000187910
Genbank transcript ID NM_001031850
UniProt peptide Q00889
alteration type single base exchange
alteration region CDS
DNA changes c.253C>G
cDNA.319C>G
g.1712C>G
AA changes H85D Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS
85
frameshift no
known variant Reference ID: rs3198831
databasehomozygous (C/C)heterozygousallele carriers
1000G56511411706
ExAC86731542124094
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0710
-1.1140
(flanking)1.4240.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased1705wt: 0.8905 / mu: 0.9188 (marginal change - not scored)wt: TACCATTACATTACATCATATGTAGTACACGGTCAAATTAT
mu: TACCATTACATTACATCATATGTAGTAGACGGTCAAATTAT
 atat|GTAG
Donor increased1709wt: 0.23 / mu: 0.27wt: ATGTAGTACACGGTC
mu: ATGTAGTAGACGGTC
 GTAG|taca
Donor increased1716wt: 0.48 / mu: 0.65wt: ACACGGTCAAATTAT
mu: AGACGGTCAAATTAT
 ACGG|tcaa
distance from splice site 175
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      85DLYHYITSYVVHGQIIYGPAYSGR
mutated  not conserved    85DLYHYITSYVVDGQIIYGPAYSG
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
35143DOMAINIg-like V-type.lost
103103CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
110110CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
126128MOTIFCell attachment site (Potential).might get lost (downstream of altered splice site)
148148CONFLICTP -> R (in Ref. 3; CAA34957).might get lost (downstream of altered splice site)
148233DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
168168DISULFIDProbable.might get lost (downstream of altered splice site)
198198CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
216216DISULFIDProbable.might get lost (downstream of altered splice site)
220221CONFLICTNP -> RG (in Ref. 3; CAA34957).might get lost (downstream of altered splice site)
241326DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
261261DISULFIDProbable.might get lost (downstream of altered splice site)
267267CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
302302CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
309309DISULFIDProbable.might get lost (downstream of altered splice site)
334405DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
339339CONFLICTS -> Y (in Ref. 3; CAA34957).might get lost (downstream of altered splice site)
353353DISULFIDProbable.might get lost (downstream of altered splice site)
364364CONFLICTS -> F (in Ref. 2; AAA36512 and 3; CAA34957).might get lost (downstream of altered splice site)
386386CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
393393DISULFIDProbable.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1275 / 1275
position (AA) of stopcodon in wt / mu AA sequence 425 / 425
position of stopcodon in wt / mu cDNA 1341 / 1341
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 67 / 67
chromosome 19
strand -1
last intron/exon boundary 1307
theoretical NMD boundary in CDS 1190
length of CDS 1275
coding sequence (CDS) position 253
cDNA position
(for ins/del: last normal base / first normal base)
319
gDNA position
(for ins/del: last normal base / first normal base)
1712
chromosomal position
(for ins/del: last normal base / first normal base)
43420451
original gDNA sequence snippet ACATTACATCATATGTAGTACACGGTCAAATTATATATGGG
altered gDNA sequence snippet ACATTACATCATATGTAGTAGACGGTCAAATTATATATGGG
original cDNA sequence snippet ACATTACATCATATGTAGTACACGGTCAAATTATATATGGG
altered cDNA sequence snippet ACATTACATCATATGTAGTAGACGGTCAAATTATATATGGG
wildtype AA sequence MGPLSAPPCT QHITWKGLLL TASLLNFWNL PTTAQVIIEA KPPKVSEGKD VLLLVHNLPQ
NLTGYIWYKG QMTDLYHYIT SYVVHGQIIY GPAYSGRETV YSNASLLIQN VTQEDAGSYT
LHIIKRGDGT GGVTGYFTVT LYSETPKPSI SSSNLNPREV MEAVRLICDP ETPDASYLWL
LNGQNLPMTH RLQLSKTNRT LYLFGVTKYI AGPYECEIRN PVSASRSDPV TLNLLPKLPM
PYITINNLNP REKKDVLAFT CEPKSRNYTY IWWLNGQSLP VSPRVKRPIE NRILILPSVT
RNETGPYQCE IRDRYGGIRS NPVTLNVLYG PDLPRIYPSF TYYRSGENLD LSCFADSNPP
AEYSWTINGK FQLSGQKLFI PQITTNHSGL YACSVRNSAT GKEISKSMIV KVSGPCHGNQ
TESH*
mutated AA sequence MGPLSAPPCT QHITWKGLLL TASLLNFWNL PTTAQVIIEA KPPKVSEGKD VLLLVHNLPQ
NLTGYIWYKG QMTDLYHYIT SYVVDGQIIY GPAYSGRETV YSNASLLIQN VTQEDAGSYT
LHIIKRGDGT GGVTGYFTVT LYSETPKPSI SSSNLNPREV MEAVRLICDP ETPDASYLWL
LNGQNLPMTH RLQLSKTNRT LYLFGVTKYI AGPYECEIRN PVSASRSDPV TLNLLPKLPM
PYITINNLNP REKKDVLAFT CEPKSRNYTY IWWLNGQSLP VSPRVKRPIE NRILILPSVT
RNETGPYQCE IRDRYGGIRS NPVTLNVLYG PDLPRIYPSF TYYRSGENLD LSCFADSNPP
AEYSWTINGK FQLSGQKLFI PQITTNHSGL YACSVRNSAT GKEISKSMIV KVSGPCHGNQ
TESH*
speed 0.13 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998186 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:43420451G>CN/A show variant in all transcripts   IGV
HGNC symbol PSG6
Ensembl transcript ID ENST00000402603
Genbank transcript ID N/A
UniProt peptide Q00889
alteration type single base exchange
alteration region CDS
DNA changes c.253C>G
cDNA.343C>G
g.1712C>G
AA changes H85D Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS
85
frameshift no
known variant Reference ID: rs3198831
databasehomozygous (C/C)heterozygousallele carriers
1000G56511411706
ExAC86731542124094
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0710
-1.1140
(flanking)1.4240.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased1705wt: 0.8905 / mu: 0.9188 (marginal change - not scored)wt: TACCATTACATTACATCATATGTAGTACACGGTCAAATTAT
mu: TACCATTACATTACATCATATGTAGTAGACGGTCAAATTAT
 atat|GTAG
Donor increased1709wt: 0.23 / mu: 0.27wt: ATGTAGTACACGGTC
mu: ATGTAGTAGACGGTC
 GTAG|taca
Donor increased1716wt: 0.48 / mu: 0.65wt: ACACGGTCAAATTAT
mu: AGACGGTCAAATTAT
 ACGG|tcaa
distance from splice site 175
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      85DLYHYITSYVVHGQIIYGPAYSGR
mutated  not conserved    85DLYHYITSYVVDGQIIYGPAYSG
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
35143DOMAINIg-like V-type.lost
103103CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
110110CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
126128MOTIFCell attachment site (Potential).might get lost (downstream of altered splice site)
148148CONFLICTP -> R (in Ref. 3; CAA34957).might get lost (downstream of altered splice site)
148233DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
168168DISULFIDProbable.might get lost (downstream of altered splice site)
198198CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
216216DISULFIDProbable.might get lost (downstream of altered splice site)
220221CONFLICTNP -> RG (in Ref. 3; CAA34957).might get lost (downstream of altered splice site)
241326DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
261261DISULFIDProbable.might get lost (downstream of altered splice site)
267267CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
302302CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
309309DISULFIDProbable.might get lost (downstream of altered splice site)
334405DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
339339CONFLICTS -> Y (in Ref. 3; CAA34957).might get lost (downstream of altered splice site)
353353DISULFIDProbable.might get lost (downstream of altered splice site)
364364CONFLICTS -> F (in Ref. 2; AAA36512 and 3; CAA34957).might get lost (downstream of altered splice site)
386386CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
393393DISULFIDProbable.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 996 / 996
position (AA) of stopcodon in wt / mu AA sequence 332 / 332
position of stopcodon in wt / mu cDNA 1086 / 1086
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 91 / 91
chromosome 19
strand -1
last intron/exon boundary 1052
theoretical NMD boundary in CDS 911
length of CDS 996
coding sequence (CDS) position 253
cDNA position
(for ins/del: last normal base / first normal base)
343
gDNA position
(for ins/del: last normal base / first normal base)
1712
chromosomal position
(for ins/del: last normal base / first normal base)
43420451
original gDNA sequence snippet ACATTACATCATATGTAGTACACGGTCAAATTATATATGGG
altered gDNA sequence snippet ACATTACATCATATGTAGTAGACGGTCAAATTATATATGGG
original cDNA sequence snippet ACATTACATCATATGTAGTACACGGTCAAATTATATATGGG
altered cDNA sequence snippet ACATTACATCATATGTAGTAGACGGTCAAATTATATATGGG
wildtype AA sequence MGPLSAPPCT QHITWKGLLL TASLLNFWNL PTTAQVIIEA KPPKVSEGKD VLLLVHNLPQ
NLTGYIWYKG QMTDLYHYIT SYVVHGQIIY GPAYSGRETV YSNASLLIQN VTQEDAGSYT
LHIIKRGDGT GGVTGYFTVT LYSETPKPSI SSSNLNPREV MEAVRLICDP ETPDASYLWL
LNGQNLPMTH RLQLSKTNRT LYLFGVTKYI AGPYECEIRN PVSASRSDPV TLNLLHGPDL
PRIYPSFTYY RSGENLDLSC FADSNPPAEY SWTINGKFQL SGQKLFIPQI TTNHSGLYAC
SVRNSATGKE ISKSMIVKVS GPCHGNQTES H*
mutated AA sequence MGPLSAPPCT QHITWKGLLL TASLLNFWNL PTTAQVIIEA KPPKVSEGKD VLLLVHNLPQ
NLTGYIWYKG QMTDLYHYIT SYVVDGQIIY GPAYSGRETV YSNASLLIQN VTQEDAGSYT
LHIIKRGDGT GGVTGYFTVT LYSETPKPSI SSSNLNPREV MEAVRLICDP ETPDASYLWL
LNGQNLPMTH RLQLSKTNRT LYLFGVTKYI AGPYECEIRN PVSASRSDPV TLNLLHGPDL
PRIYPSFTYY RSGENLDLSC FADSNPPAEY SWTINGKFQL SGQKLFIPQI TTNHSGLYAC
SVRNSATGKE ISKSMIVKVS GPCHGNQTES H*
speed 1.24 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998186 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:43420451G>CN/A show variant in all transcripts   IGV
HGNC symbol PSG6
Ensembl transcript ID ENST00000292125
Genbank transcript ID NM_002782
UniProt peptide Q00889
alteration type single base exchange
alteration region CDS
DNA changes c.253C>G
cDNA.298C>G
g.1712C>G
AA changes H85D Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS
85
frameshift no
known variant Reference ID: rs3198831
databasehomozygous (C/C)heterozygousallele carriers
1000G56511411706
ExAC86731542124094
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0710
-1.1140
(flanking)1.4240.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased1705wt: 0.8905 / mu: 0.9188 (marginal change - not scored)wt: TACCATTACATTACATCATATGTAGTACACGGTCAAATTAT
mu: TACCATTACATTACATCATATGTAGTAGACGGTCAAATTAT
 atat|GTAG
Donor increased1709wt: 0.23 / mu: 0.27wt: ATGTAGTACACGGTC
mu: ATGTAGTAGACGGTC
 GTAG|taca
Donor increased1716wt: 0.48 / mu: 0.65wt: ACACGGTCAAATTAT
mu: AGACGGTCAAATTAT
 ACGG|tcaa
distance from splice site 175
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      85DLYHYITSYVVHGQIIYGPAYSGR
mutated  not conserved    85DLYHYITSYVVDGQIIYGPAYSG
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
35143DOMAINIg-like V-type.lost
103103CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
110110CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
126128MOTIFCell attachment site (Potential).might get lost (downstream of altered splice site)
148148CONFLICTP -> R (in Ref. 3; CAA34957).might get lost (downstream of altered splice site)
148233DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
168168DISULFIDProbable.might get lost (downstream of altered splice site)
198198CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
216216DISULFIDProbable.might get lost (downstream of altered splice site)
220221CONFLICTNP -> RG (in Ref. 3; CAA34957).might get lost (downstream of altered splice site)
241326DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
261261DISULFIDProbable.might get lost (downstream of altered splice site)
267267CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
302302CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
309309DISULFIDProbable.might get lost (downstream of altered splice site)
334405DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
339339CONFLICTS -> Y (in Ref. 3; CAA34957).might get lost (downstream of altered splice site)
353353DISULFIDProbable.might get lost (downstream of altered splice site)
364364CONFLICTS -> F (in Ref. 2; AAA36512 and 3; CAA34957).might get lost (downstream of altered splice site)
386386CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
393393DISULFIDProbable.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1308 / 1308
position (AA) of stopcodon in wt / mu AA sequence 436 / 436
position of stopcodon in wt / mu cDNA 1353 / 1353
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 46 / 46
chromosome 19
strand -1
last intron/exon boundary 1286
theoretical NMD boundary in CDS 1190
length of CDS 1308
coding sequence (CDS) position 253
cDNA position
(for ins/del: last normal base / first normal base)
298
gDNA position
(for ins/del: last normal base / first normal base)
1712
chromosomal position
(for ins/del: last normal base / first normal base)
43420451
original gDNA sequence snippet ACATTACATCATATGTAGTACACGGTCAAATTATATATGGG
altered gDNA sequence snippet ACATTACATCATATGTAGTAGACGGTCAAATTATATATGGG
original cDNA sequence snippet ACATTACATCATATGTAGTACACGGTCAAATTATATATGGG
altered cDNA sequence snippet ACATTACATCATATGTAGTAGACGGTCAAATTATATATGGG
wildtype AA sequence MGPLSAPPCT QHITWKGLLL TASLLNFWNL PTTAQVIIEA KPPKVSEGKD VLLLVHNLPQ
NLTGYIWYKG QMTDLYHYIT SYVVHGQIIY GPAYSGRETV YSNASLLIQN VTQEDAGSYT
LHIIKRGDGT GGVTGYFTVT LYSETPKPSI SSSNLNPREV MEAVRLICDP ETPDASYLWL
LNGQNLPMTH RLQLSKTNRT LYLFGVTKYI AGPYECEIRN PVSASRSDPV TLNLLPKLPM
PYITINNLNP REKKDVLAFT CEPKSRNYTY IWWLNGQSLP VSPRVKRPIE NRILILPSVT
RNETGPYQCE IRDRYGGIRS NPVTLNVLYG PDLPRIYPSF TYYRSGENLD LSCFADSNPP
AEYSWTINGK FQLSGQKLFI PQITTNHSGL YACSVRNSAT GKEISKSMIV KVSETASPQV
TYAGPNTWFQ EILLL*
mutated AA sequence MGPLSAPPCT QHITWKGLLL TASLLNFWNL PTTAQVIIEA KPPKVSEGKD VLLLVHNLPQ
NLTGYIWYKG QMTDLYHYIT SYVVDGQIIY GPAYSGRETV YSNASLLIQN VTQEDAGSYT
LHIIKRGDGT GGVTGYFTVT LYSETPKPSI SSSNLNPREV MEAVRLICDP ETPDASYLWL
LNGQNLPMTH RLQLSKTNRT LYLFGVTKYI AGPYECEIRN PVSASRSDPV TLNLLPKLPM
PYITINNLNP REKKDVLAFT CEPKSRNYTY IWWLNGQSLP VSPRVKRPIE NRILILPSVT
RNETGPYQCE IRDRYGGIRS NPVTLNVLYG PDLPRIYPSF TYYRSGENLD LSCFADSNPP
AEYSWTINGK FQLSGQKLFI PQITTNHSGL YACSVRNSAT GKEISKSMIV KVSETASPQV
TYAGPNTWFQ EILLL*
speed 0.24 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998186 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:43420451G>CN/A show variant in all transcripts   IGV
HGNC symbol PSG6
Ensembl transcript ID ENST00000402456
Genbank transcript ID N/A
UniProt peptide Q00889
alteration type single base exchange
alteration region CDS
DNA changes c.253C>G
cDNA.343C>G
g.1712C>G
AA changes H85D Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS
85
frameshift no
known variant Reference ID: rs3198831
databasehomozygous (C/C)heterozygousallele carriers
1000G56511411706
ExAC86731542124094
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0710
-1.1140
(flanking)1.4240.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased1705wt: 0.8905 / mu: 0.9188 (marginal change - not scored)wt: TACCATTACATTACATCATATGTAGTACACGGTCAAATTAT
mu: TACCATTACATTACATCATATGTAGTAGACGGTCAAATTAT
 atat|GTAG
Donor increased1709wt: 0.23 / mu: 0.27wt: ATGTAGTACACGGTC
mu: ATGTAGTAGACGGTC
 GTAG|taca
Donor increased1716wt: 0.48 / mu: 0.65wt: ACACGGTCAAATTAT
mu: AGACGGTCAAATTAT
 ACGG|tcaa
distance from splice site 175
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      85DLYHYITSYVVHGQIIYGPAYSGR
mutated  not conserved    85DLYHYITSYVVDGQIIYGPAYSG
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
35143DOMAINIg-like V-type.lost
103103CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
110110CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
126128MOTIFCell attachment site (Potential).might get lost (downstream of altered splice site)
148148CONFLICTP -> R (in Ref. 3; CAA34957).might get lost (downstream of altered splice site)
148233DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
168168DISULFIDProbable.might get lost (downstream of altered splice site)
198198CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
216216DISULFIDProbable.might get lost (downstream of altered splice site)
220221CONFLICTNP -> RG (in Ref. 3; CAA34957).might get lost (downstream of altered splice site)
241326DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
261261DISULFIDProbable.might get lost (downstream of altered splice site)
267267CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
302302CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
309309DISULFIDProbable.might get lost (downstream of altered splice site)
334405DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
339339CONFLICTS -> Y (in Ref. 3; CAA34957).might get lost (downstream of altered splice site)
353353DISULFIDProbable.might get lost (downstream of altered splice site)
364364CONFLICTS -> F (in Ref. 2; AAA36512 and 3; CAA34957).might get lost (downstream of altered splice site)
386386CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
393393DISULFIDProbable.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 885 / 885
position (AA) of stopcodon in wt / mu AA sequence 295 / 295
position of stopcodon in wt / mu cDNA 975 / 975
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 91 / 91
chromosome 19
strand -1
last intron/exon boundary 518
theoretical NMD boundary in CDS 377
length of CDS 885
coding sequence (CDS) position 253
cDNA position
(for ins/del: last normal base / first normal base)
343
gDNA position
(for ins/del: last normal base / first normal base)
1712
chromosomal position
(for ins/del: last normal base / first normal base)
43420451
original gDNA sequence snippet ACATTACATCATATGTAGTACACGGTCAAATTATATATGGG
altered gDNA sequence snippet ACATTACATCATATGTAGTAGACGGTCAAATTATATATGGG
original cDNA sequence snippet ACATTACATCATATGTAGTACACGGTCAAATTATATATGGG
altered cDNA sequence snippet ACATTACATCATATGTAGTAGACGGTCAAATTATATATGGG
wildtype AA sequence MGPLSAPPCT QHITWKGLLL TASLLNFWNL PTTAQVIIEA KPPKVSEGKD VLLLVHNLPQ
NLTGYIWYKG QMTDLYHYIT SYVVHGQIIY GPAYSGRETV YSNASLLIQN VTQEDAGSYT
LHIIKRGDGT GGVTGYFTVT LYSETPKPSI SSSNLNPREV MEAVRLICDP ETPDASYLWL
LNGQNLPMTH RLQLSKTNRT LYLFGVTKYI AGPYECEIRN PVSASRSDPV TLNLLREYLL
FLCEPGCHPK YKWPEARPLS PSQVQVQRPL SLNIKAGHDF LLQANQSRPR LDQQ*
mutated AA sequence MGPLSAPPCT QHITWKGLLL TASLLNFWNL PTTAQVIIEA KPPKVSEGKD VLLLVHNLPQ
NLTGYIWYKG QMTDLYHYIT SYVVDGQIIY GPAYSGRETV YSNASLLIQN VTQEDAGSYT
LHIIKRGDGT GGVTGYFTVT LYSETPKPSI SSSNLNPREV MEAVRLICDP ETPDASYLWL
LNGQNLPMTH RLQLSKTNRT LYLFGVTKYI AGPYECEIRN PVSASRSDPV TLNLLREYLL
FLCEPGCHPK YKWPEARPLS PSQVQVQRPL SLNIKAGHDF LLQANQSRPR LDQQ*
speed 0.24 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Problems